HsaEX0020148 @ hg38
Exon Skipping
Gene
ENSG00000185842 | DNAH14
Description
dynein axonemal heavy chain 14 [Source:HGNC Symbol;Acc:HGNC:2945]
Coordinates
chr1:225023615-225079548:+
Coord C1 exon
chr1:225023615-225023865
Coord A exon
chr1:225038694-225038823
Coord C2 exon
chr1:225079207-225079548
Length
130 bp
Sequences
Splice sites
3' ss Seq
CTTCCCATTTCTTAATCCAGAAC
3' ss Score
6.94
5' ss Seq
GAGGTAAAA
5' ss Score
7.3
Exon sequences
Seq C1 exon
GTTGCAGAAAAGAATGAAATCAAAGAGTATTTTGAGTCAAAACTCTCTGAAGATGACACAACACATTTCAAGCTGCCTAAATATAGACGTTTATTAGAAACATTTTTCAAGTTTGTAATGCTGGTTGACTACATATTTCAGGAACTCATTCGTCAACTTATGAACACTGCAGTCACACTACTTTTGGAATTATTTAATGGTTCTGCTGGAATGCCATTTTCAGTGGAAAAAAAGAATGAAAATCTTATCAG
Seq A exon
AACATTCAAGGACAACTCTTTTCCTACTGGAAAGACAACAAATGATTGTGAAGAACTTGTTGATAATTCAAAGTTACATGCTATTTCTGTTCAAAAGTCAGAAGTAAAAACAGACACTGATATTAATGAG
Seq C2 exon
GTTGTGGAATCATCATTGCAGCAGCTGGAATGTGATCCCACTGAAATAGAAGAATTTCTGGAGCATTTTATTTTTTTGAATGCAATTTCCTCAAAAATATCTAAATTAGAAAAAGAGTTCTTAACAATGTCTCAGCTATATTCTGTTGCAAAGCATCACCAGATCCATATTTCAGAAGAGCAAATTGCCATATTCCAAGTTCTTCTTCTTAAGTTTAGTCAACTAAAATCATCTATGAAGTTAAGTAAAATAAATAAAGACACTGCTATAACTAAATTCAGAGATAACTTGGAAGCATGTATCAGTGGTCTACATGTTGATGTTGGCAATTTAAAAGCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000185842_MULTIEX2-7/72=6-14
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.045 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGAACACTGCAGTCACACTACT
R:
TGGATCTGGTGATGCTTTGCA
Band lengths:
258-388
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development